Publications - Page 22 sur 57 - RespiFIL - Filière de santé des maladies respiratoires rares

Voici les publications scientifiques relatives aux maladies respiratoires rares auxquelles les membres de la filière ont contribué, classées par groupes de pathologies (depuis juillet 2021).

Pneumopathies interstitielles diffuses (PID)
Pharmaceutical Oral Formulation of Methionine as a Pediatric Treatment in Inherited Metabolic Disease.

Querin B, Schweitzer-Chaput A, Cisternino S, Auvity S, Fauqueur AS, Negbane A, Hadchouel A, Schlatter J, Cotteret C.

Pharmaceutics. 2023 Mar 16;15(3):957.
Pneumopathies interstitielles diffuses (PID)
Diffuse alveolar haemorrhage in children: an international multicentre study.

Ring AM, Schwerk N, Kiper N, Aslan AT, Aurora P, Ayats R, Azevedo I, Bandeira T, Carlens J, Castillo-Corullon S, Cobanoglu N, Elnazir B, Emiralioğlu N, Eyuboglu TS, Fayon M, Gursoy TR, Hogg C, Kötz K, Karadag B, Látalová V, Krenke K, Lange J, Manali ED, Osona B, Papiris S, Proesmann M, Reix P, Roditis L, Rubak S, Rumman N, Snijders D, Stehling F, Weiss L, Yalcın E, Zirek F, Bush A, Clement A, Griese M, Buchvald FF, Nathan N, Nielsen KG.

ERJ Open Res. 2023 Apr 24;9(2):00733-2022.
Pneumopathies interstitielles diffuses (PID)
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.

Desroziers T, Prévot G, Coulomb A, Nau V, Dastot-Le Moal F, Duquesnoy P, Héry M, Le Borgne A, Amselem S, Legendre M, Nathan N.

Eur J Hum Genet. 2023 Jun 28.
Pneumopathies interstitielles diffuses (PID)
Diagnostic workup of childhood interstitial lung disease.

Nathan N, Griese M, Michel K, Carlens J, Gilbert C, Emiralioglu N, Torrent-Vernetta A, Marczak H, Willemse B, Delestrain C, Epaud R; ERS CRC chILD-EU group.

Eur Respir Rev. 2023 Feb 21;32(167):220188.
Anomalies du contrôle respiratoire
Short-term cognitive loading deteriorates breathing pattern and gas exchange in adult patients with congenital central hypoventilation syndrome.

Taytard J, Niérat MC, Gand C, Lavault S, Morélot-Panzini C, Patout M, Serresse L, Wattiez N, Bodineau L, Straus C, Similowski T.

ERJ Open Res. 2023 Mar 13;9(2):00408-2022.
Anomalies du contrôle respiratoire
Neurogenic hypertension characterizes children with congenital central hypoventilation syndrome and is aggravated by alveolar hypoventilation during sleep.

Dudoignon B, Bokov P, Couque N, Denjoy I, Matrot B, Delclaux C.

J Hypertens. 2023 Aug 1;41(8):1339-1346.
Anomalies du contrôle respiratoire
Serotonin and the ventilatory effects of etonogestrel, a gonane progestin, in a murine model of congenital central hypoventilation syndrome.

Casciato A, Bianchi L, Reverdy M, Joubert F, Delucenay-Clarke R, Parrot S, Ramanantsoa N, Sizun E, Matrot B, Straus C, Similowski T, Cayetanot F, Bodineau L.

Front Endocrinol (Lausanne). 2023 Feb 21;14:1077798.
Anomalies du contrôle respiratoire
Central CO2 chemosensitivity and CO2 controller gain independently contribute to daytime Pco2 in young subjects with congenital central hypoventilation syndrome.

Bokov P, Dudoignon B, Patout M, Matrot B, Gallego J, Delclaux C.

J Appl Physiol (1985). 2023 Aug 1;135(2):343-351.
Anomalies du contrôle respiratoire
Heart rate variability in congenital central hypoventilation syndrome: relationships with hypertension and sinus pauses.

Dudoignon B, Denjoy I, Patout M, Matrot B, Gallego J, Bokov P, Delclaux C.

Pediatr Res. 2023 Mar;93(4):1003-1009.
Anomalies du contrôle respiratoire
Decannulation in congenital central hypoventilation syndrome.

Ghelab Z, Bokov P, Teissier N, Micaelli D, Patout M, Hayotte A, Dauger S, Delclaux C, Dudoignon B.

Pediatr Pulmonol. 2023 Jun;58(6):1761-1767.

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Pharmaceutical Oral Formulation of Methionine as a Pediatric Treatment in Inherited Metabolic Disease.

Diffuse alveolar haemorrhage in children: an international multicentre study.

Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.

Diagnostic workup of childhood interstitial lung disease.

Short-term cognitive loading deteriorates breathing pattern and gas exchange in adult patients with congenital central hypoventilation syndrome.

Neurogenic hypertension characterizes children with congenital central hypoventilation syndrome and is aggravated by alveolar hypoventilation during sleep.

Serotonin and the ventilatory effects of etonogestrel, a gonane progestin, in a murine model of congenital central hypoventilation syndrome.

Central CO2 chemosensitivity and CO2 controller gain independently contribute to daytime Pco2 in young subjects with congenital central hypoventilation syndrome.

Heart rate variability in congenital central hypoventilation syndrome: relationships with hypertension and sinus pauses.

Decannulation in congenital central hypoventilation syndrome.